Progeria: history, causes and symptoms

Do you know that when you are young, you are already showing signs of ageing? Sound strange, isn’t? Well, this is a very rare symptom known as ‘Progeria’, that is common amongst American children. This syndrome is highly disseminated in American serials, talk shows and documentaries enacted by affected child artistes.

The term progeria is derived from the Greek work meaning ‘prematurely old’. Jonathan Hutchinson and Hastings Gilford discovered the syndrome in 1886. Thereafter, around 100 cases have been identified so far.

Also termed as Hutchinson-Gilford progeria, it is a rare genetic condition because aging occurs in about one in eight million newborns. It is a matter of fact, that most of these affected children hardly survives before they step into adolescent stage. The maximum survival chances is not more than 30 years, where heart stroke is the main cause for early death.

CAUSES

Progeria is an autosomal recessive disease. This means that an individual carrying a mutation in a single gene does not show any sort of symptoms.

It has been discovered that ninety percent of the progeria-affected children have a mutation on the gene that encodes Lamin A protein (LMNA)–a fibrous protein involved in the structure of nuclear membrane.

It either develops during cell division in a newly conceived child or in the gametes of one of the parents. However, the real and exact reasons have not yet being identified.

Progeria occurs intermittently. It is generally not seen in siblings of affected children. However, in rare cases, it can so happen, that more than one child in a family can succumb to progeria.

SYMPTOMS

The first symptom of progeria syndrome is that the child body fails to develop in the initial year itself. Initially, after birth, the child appears to be normal. The real symptoms begin to show when the child is nearly six to twelve months, when it fails to gain weight.

With the result, the body grows like a dwarf in contrast with the size of the head. The face is small in size with nose pinched. As the ailment progresses, it leads to wrinkles, arteriosclerosis and cardiovascular problems.

The common symptoms are as under:

HEAD AND FACE: It is characterized by signs of narrowed face, baldness, prominent scalp veins and eyes. The jaws are small in size and there are high chances of delayed tooth formation. The eyelashes and eyebrows are hardly visible.

BONES: The limbs are fragile with stiff joints, accompaniment with signs of short stature and hip dislocations.

CARDIOVASCULAR DISEASES

About 97% of the children affected are Caucasian. All children with this ailment have a similar appearance, regardless of racial/ethnic background. The children suffer from early arteriosclerosis, which causes irregular heartbeats. On a rare occasion, there is blockage of arteries.

SKIN

The skin changes showing symptoms of scleroderma. Here the connective tissue becomes tough and hardened.

So far, there has been no permanent cure for progeria syndrome. However, there are support groups to help you to overcome this ailment positively.

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